Canonical Allele Identifier: CA461106131

Gene: CHD7

Linked Data

• MyVariant Identifiers: chr8:g.61777991T>G (hg19)

Genomic Alleles

HGVS	Genome Assembly
NC_000008.11:g.60865432T>G , CM000670.2:g.60865432T>G	GRCh38
NC_000008.10:g.61777991T>G , CM000670.1:g.61777991T>G	GRCh37
NC_000008.9:g.61940545T>G	NCBI36
NG_007009.1:g.191653T>G , LRG_176:g.191653T>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000695850.1:n.1669T>G
ENST00000695852.1:n.600T>G
ENST00000695853.1:c.*1552T>G	ENSP00000512218.1:n.*1552T>G
ENST00000423902.7:c.8493T>G MANE Select	ENSP00000392028.1:p.Ser2831=
ENST00000423902.6:c.8493T>G	ENSP00000392028.1:p.Ser2831=
ENST00000524602.5:c.2346T>G	ENSP00000437061.1:p.Ser782=
ENST00000528280.1:n.539T>G
NM_001316690.1:c.2346T>G	NP_001303619.1:p.Ser782=
NM_017780.3:c.8493T>G	NP_060250.2:p.Ser2831=
XM_011517553.1:c.8583T>G	XP_011515855.1:p.Ser2861=
XM_011517554.1:c.8583T>G	XP_011515856.1:p.Ser2861=
XM_011517555.1:c.8580T>G	XP_011515857.1:p.Ser2860=
XM_011517556.1:c.8361T>G	XP_011515858.1:p.Ser2787=
XM_011517557.1:c.6570T>G	XP_011515859.1:p.Ser2190=
XM_011517558.1:c.6120T>G	XP_011515860.1:p.Ser2040=
XM_011517559.1:c.5328T>G	XP_011515861.1:p.Ser1776=
XM_011517553.2:c.8583T>G	XP_011515855.1:p.Ser2861=
XM_011517554.3:c.8583T>G	XP_011515856.1:p.Ser2861=
XM_011517555.2:c.8580T>G	XP_011515857.1:p.Ser2860=
XM_017013612.1:c.8583T>G	XP_016869101.1:p.Ser2861=
XM_017013613.1:c.8490T>G	XP_016869102.1:p.Ser2830=
NM_017780.4:c.8493T>G MANE Select	NP_060250.2:p.Ser2831=